Product Details

SNP ID
rs200247885
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:282265 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAGGAAGAACTGGACTGTGGGTC[A/G]CAGCAGCCGTGCCCACTTCCAACAG
Phenotype
MIM: 607126
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLPP2 PubMed Links

Gene Details

Gene
PLPP2
Gene Name
phospholipid phosphatase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003712.3 685 Nonsense Mutation CGA,TGA R196* NP_003703.1
NM_177526.2 685 Nonsense Mutation CGA,TGA R140* NP_803545.1
NM_177543.2 685 Nonsense Mutation CGA,TGA R217* NP_808211.1
XM_011528396.2 685 Nonsense Mutation CGA,TGA R202* XP_011526698.1

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